2012
DOI: 10.1097/mph.0b013e31823321e5
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Acute Lymphoblastic Leukemia in a Patient With Constitutional Chromosome 1pter-p36.31 Duplication and 1q43-qter Deletion

Abstract: Chromosome 1 is the largest of all human chromosomes, containing 3141 genes. It is linked to 890 known genetic diseases including congenital hypothyroidism, hemochromatosis, and prostate cancer. Recognized deletion and duplication syndromes have been described. Deletions in the short arm (p) of the chromosome have been identified in tumors of the brain and kidneys. Duplications in the long (q) arm of the chromosome are reported in myelodysplastic syndromes. Solitary 1p36 deletion or 1q42 duplication are rarely… Show more

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Cited by 4 publications
(5 citation statements)
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“…The candidate FLI-1 gene is believed to be responsible for the dysmegakaryopoiesis suggesting a pathogenic role for the FLI-1 gene in the pathophysiology of the platelet abnormalities. 1 Our patient's predisposition to cancer is supported by the detection of increased amounts of immature cells in her bone marrow aspirate. 24 Moreover, patients with interstitial microdeletion syndromes involving 1q21.1 are associated with the thrombocytopenia-absent radius syndrome.…”
Section: Discussionmentioning
confidence: 80%
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“…The candidate FLI-1 gene is believed to be responsible for the dysmegakaryopoiesis suggesting a pathogenic role for the FLI-1 gene in the pathophysiology of the platelet abnormalities. 1 Our patient's predisposition to cancer is supported by the detection of increased amounts of immature cells in her bone marrow aspirate. 24 Moreover, patients with interstitial microdeletion syndromes involving 1q21.1 are associated with the thrombocytopenia-absent radius syndrome.…”
Section: Discussionmentioning
confidence: 80%
“…1 Distal trisomy 10p15, which has rarely been reported in the literature, has been associated with a mild phenotype 19 and no pancytopenia. In contrast, none of these published cases showed a 1q partnership with 10p.…”
Section: Discussionmentioning
confidence: 99%
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“…Most of the reported cases are the results of translocations involving the telomeric regions of chromosomes [Steffensen et al, 1977;Johnson et al, 1985;Watson et al, 1986;Kausch et al, 1988;Johnson, 1991;Ioan et al, 1992;Arai et al, 1994;Concolino et al, 1998;Fan et al, 1999;Bartsch et al, 2001;De Brasi et al, 2001;Gentile et al, 2003;Coccé et al, 2007;Hill et al, 2007;Tuschl et al, 2007;Chen et al, 2010Chen et al, , 2012Tartaglia et al, 2011;Khan et al, 2012;Morris et al, 2016].…”
mentioning
confidence: 99%